大Y染色体核型对男性生育力的影响及临床意义  

Influence of big Y chromosome on male fertile function and the clinical implications

作　　者：陈亮[1] 付杰[1] 于丽[1] 齐雯[1] 马京梅[1] 潘虹[1] 陈菲[1] 张娜[1] 王晟[1] 王玲[1] 张凯[1] 郐艳荣[1] 尚鶄[1] 张蕾[1] 鞠慧岩[1] 薛晴[1] 贺占举[2] 左文莉[1] 徐阳[1] 

机构地区：[1]北京大学第一医院生殖与遗传医疗中心,北京100034 [2]北京大学第一医院泌尿外科,北京100034

出　　处：《中国性科学》2014年第1期63-66,共4页Chinese Journal of Human Sexuality

基　　金：北京大学第一医院归国留学启动基金项目资助

摘　　要：目的:探讨大Y染色体核型对男性生育力的影响及其临床意义。方法:回顾性分析2139例男性患者的外周血细胞核型分析结果,并将其分为两组,包括不良妊娠结局或羊水穿刺胎儿染色体异常者(A组),严重少、弱精症或无精症等男性不育者(B组)。比较不同组别之间的大Y检出率之间的差异并进行临床分析。结果:A组1326例,B组813例,共检出68例大Y染色体核型。其中,A组检出大Y核型47例,检出率为3.54%;B组检出大Y核型21例,检出率为2.58%。对于A组中大Y核型检出者其配偶同时进行染色体核型分析。对检出的68例大Y核型进行分析,临床效应表现为弱精症者13例,占19.11%;无精症者8例,占11.76%;其配偶曾有胚胎停育11例,占16.17%;自然流产者6例,占8.82%;羊水穿刺胎儿染色体异常者16例,占23.52%,两组间大Y核型检出率比较无统计学显著差异。结论:大Y染色体核型,作为一种遗传多态性,可能具备一定的临床效应,与男性生精功能降低及对胚胎发育的影响,值得关注及深入研究。Objectives： To explore the effects of big Y chromosome configuration on male fertility and to evaluate the relevant clinical significance. Method： 2139 cases of cytogenetics were examined by culturing peripheral -blood lymphocyte and G -banding technology, and all cases were divided into 2 groups （A and B） according to patients＇ karyotypes. Results： In the group with adverse pregnancy outcomes,47 out of 1326 cases were found with abnormal karyotype of big Y chromosome, accounting for an abnormal rate of 3.54%. Main clinical effects were embryouic diapause （ 11 cases, 16. 17% ）, miscarriage （6 cases, 8. 82% ） and abnormal result of amniotic fluid puncture （16 cases, 23. 52% ）. In male infertile group, 21 out of 813 cases were found with big Y chromosome and the main clinical effects were male infertility, including 8 cases of azoospermia （ 11.76% ）, and 13 cases （ 19. 11% ） of abnormal spermatozoa （oligozoospermia, asthenospermia and teratozoospermia）. There was no significant difference in terms of the abnormal rate of the big Y chromosomal karyotype between the male infertility group and the adverse pregnancy outcome group. Conclusion： The big Y Chromosomal abnormality is not only directly resal- ring in the male infertility, but also an important and continuous reason of adverse pregnancy outcomes. Detailed mechanism requires further research.

关 键 词：染色体核型 Y染色体 大Y染色体 男性不育症 

分 类 号：R698.2[医药卫生—泌尿科学]